Genetics of complex human diseases: genome screening, association studies and fine mapping
Genetics of complex human diseases: genome screening, association studies and fine mapping
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DOI：
10.1046/j.1365-2222.1998.028s5001.x
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发表时间：
1998-11
影响因子：
6.1
通讯作者：
Jianfeng Xu;DG Wiesch;D. Meyers
中科院分区：
文献类型：
--
作者：
Jianfeng Xu;DG Wiesch;D. Meyers
定位克隆已成功地应用于许多孟德尔疾病。由于公共卫生的重要性，人们对绘制具有遗传成分的常见疾病（如哮喘和过敏）的易感基因有浓厚的兴趣。全基因组筛查在检测可能含有易感基因的基因组区域方面非常有用。有多个染色体区域与哮喘有关，现在寻找基因和相关突变的困难过程正在进行中。目前正在使用的两种方法是候选基因的关联研究和单倍型共享或血统相同（IBD）作图。虽然这些都是有用的方法，但重要的是要认识到每种方法的优点和局限性。初始研究或重复研究所需的显著性水平应根据研究特定基因多态性的先前证据来考虑。单倍型共享的方法，虽然很难使用远交异质群体，可以提供重要的洞察精细定位和基因定位。
Positional cloning has been applied successfully to many Mendelian disorders. Because of the public health significance, there is strong interest in mapping susceptibility genes for common disorders, such as asthma and allergy, that have a genetic component. Genome‐wide screening has been very useful in detecting regions of the genome likely to contain susceptibility genes. There are multiple chromosomal regions implicated in asthma and now the difficult process of finding the genes and relevant mutations is underway. Two approaches that are being utilized are those of association studies in candidate genes, and haplotype sharing or identical by descent (IBD) mapping. Although these are useful approaches, it is important to realize the strengths and limitations of each. The level of significance needed for an initial study or a replication study should be considered in light of the prior evidence for studying a specific gene polymorphism. Haplotype‐sharing approaches, although difficult to use in outbred heterogeneous populations, may provide important insight into fine mapping and gene localization.